TY - JOUR
T1 - Cancer driver log (CanDL) catalog of potentially actionable cancer mutations
AU - Damodaran, Senthilkumar
AU - Miya, Jharna
AU - Kautto, Esko
AU - Zhu, Eliot
AU - Samorodnitsky, Eric
AU - Datta, Jharna
AU - Reeser, Julie W.
AU - Roychowdhury, Sameek
N1 - Funding Information:
Supported by the American Society of Clinical Oncology Young Investigator Award (S.D.), a Pelotonia postdoctoral fellowship (E.S.), American Cancer Society grant MRSG-12-194-01-TBG (S.R.), Prostate Cancer Foundation grant, NHGRI UM1HG006508-01A1 (S.R.), Fore Cancer Research , and Pelotonia .
Funding Information:
Disclosures: S.R. receives funding from Novartis and Ariad Pharmaceuticals for conduct of clinical trials. S.R. has immediate family members who own stock in Johnson and Johnson.
Publisher Copyright:
© 2015 American Society for Investigative Pathology and the Association for Molecular Pathology.
PY - 2015
Y1 - 2015
N2 - Massively parallel sequencing technologies have enabled characterization of genomic alterations across multiple tumor types. Efforts have focused on identifying driver mutations because they represent potential targets for therapy. However, because of the presence of driver and passenger mutations, it is often challenging to assign the clinical relevance of specific mutations observed in patients. Currently, there are multiple databases and tools that provide in silico assessment for potential drivers; however, there is no comprehensive resource for mutations with functional characterization. Therefore, we created an expert-curated database of potentially actionable driver mutations for molecular pathologists to facilitate annotation of cancer genomic testing. We reviewed scientific literature to identify variants that have been functionally characterized in vitro or in vivo as driver mutations. We obtained the chromosome location and all possible nucleotide positions for each amino acid change and uploaded them to the Cancer Driver Log (CanDL) database with associated literature reference indicating functional driver evidence. In addition to a simple interface, the database allows users to download all or selected genes as a comma-separated values file for incorporation into their own analysis pipeline. Furthermore, the database includes a mechanism for third-party contributions to support updates for novel driver mutations. Overall, this freely available database will facilitate rapid annotation of cancer genomic testing in molecular pathology laboratories for mutations.
AB - Massively parallel sequencing technologies have enabled characterization of genomic alterations across multiple tumor types. Efforts have focused on identifying driver mutations because they represent potential targets for therapy. However, because of the presence of driver and passenger mutations, it is often challenging to assign the clinical relevance of specific mutations observed in patients. Currently, there are multiple databases and tools that provide in silico assessment for potential drivers; however, there is no comprehensive resource for mutations with functional characterization. Therefore, we created an expert-curated database of potentially actionable driver mutations for molecular pathologists to facilitate annotation of cancer genomic testing. We reviewed scientific literature to identify variants that have been functionally characterized in vitro or in vivo as driver mutations. We obtained the chromosome location and all possible nucleotide positions for each amino acid change and uploaded them to the Cancer Driver Log (CanDL) database with associated literature reference indicating functional driver evidence. In addition to a simple interface, the database allows users to download all or selected genes as a comma-separated values file for incorporation into their own analysis pipeline. Furthermore, the database includes a mechanism for third-party contributions to support updates for novel driver mutations. Overall, this freely available database will facilitate rapid annotation of cancer genomic testing in molecular pathology laboratories for mutations.
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U2 - 10.1016/j.jmoldx.2015.05.002
DO - 10.1016/j.jmoldx.2015.05.002
M3 - Article
C2 - 26320871
AN - SCOPUS:84952663305
SN - 1525-1578
VL - 17
SP - 554
EP - 559
JO - Journal of Molecular Diagnostics
JF - Journal of Molecular Diagnostics
IS - 5
ER -